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Content archived on 2024-05-21

CFTR gene polymorphisms, mutations in chronic children and adult diseases

Objective

Cystic fibrosis (CF) is the most common autosomal recessive disorder affecting approximately 1 in 3000 newborns. Recently, it has been shown that not only mutations in the CF (CFTR gene) are responsible for the clinical presentation of CF, but also that there are intragenic polymorphisms that modify the expression of mutations or may in certain combinations ("polyvariant haplotypes") cause CF- like phenotypes. There are also other genes, modifiers that influence the occurrence of complications in CF, including mutations in the cationic trypsinogen gene (PRSSI) - "digenic inheritance".

We study such mechanisms also by analysis of CFTR alternative splicing. Besides research we perform advanced prenatal diagnostic services, including the preimplantation phase of development. CF Center is equipped with state of the art equipment, including a ABI310 PRISM genescanner, has trained technicians / researchers, some with long-term experience from foreign laboratories (USA, Germany, France).

Fields of science (EuroSciVoc)

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Topic(s)

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Call for proposal

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1999/C 64/13
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Funding Scheme

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Coordinator

CHARLES UNIVERSITY PRAGUE
EU contribution
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Address
Ovocny trh 5
PRAHA 1
Czechia

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Total cost

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